Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 15 of 15 for “""skeletal dysplasia" "genetic testing" "prenatal" "diagnostic yield" "genetic counseling""”.
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Efficacy of Genetic Testing Methodologies for Prenatal Detection of Skeletal Anomalies and Craniosynostosis Syndromes
<p>Prenatal ultrasound findings suggestive of skeletal dysplasia often have a wide differential with over 450 skeletal dysplasia syndromes described to date. Specific phenotypic features on ultrasound provide guidance, though we noted in this study that molecular testing is most informative in …
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Current Genetic Counseling Practice Following Positive Non-Invasive Prenatal Testing For Sex Chromosome Abnormalities
… purpose of this study was to describe current prenatal and pediatric genetic counseling practice following a non-invasive prenatal testing (NIPT) result positive for a sex chromosome abnormality (SCA). The positive predictive value for SCA with NIPT is lower than seen for Trisomy 21 due to …
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Knowledge and Expectations of Support People In Prenatal Genetic Counseling Sessions
<p>Prenatal genetic counseling patients have the ability to choose from a myriad of screening and diagnostic testing options, each with intricacies and caveats regarding accuracy and timing. Decisions regarding such testing can be difficult and are often made on the same day that testing is …
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Attitudes to ward and Uptake of Prenatal Genetic Screening and Testing In Twin Pregnancies
… Since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. Therefore, this study aimed to describe the attitudes toward and uptake of current prenatal genetic screening and testing …
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Exploring The Potential Yield of Prenatal Testing By Evaluating A Postnatal Population With Structural Abnormalities
… pregnant women are offered a host of different testing options to identify a possible genetic cause for the structural abnormality(ies). When considering what type of test to undertake, there is limited information on the diagnostic yield of the varying testing options. Some women may miss an …
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Impact of Genetic Counseling on Patient Empowerment After Diagnosis of Fetal Anomaly
… and mortality. When anomalies are identified on prenatal ultrasound, genetic counseling (GC) and genetic testing may be offered to investigate the potential for a possible syndromic cause. Genetic counselors provide education on the chance for a genetic etiology, available testing options, …
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Genetic Testing In Pregnancies With Ultrasound Anomalies: Exploration of Factors That Influence Uptake
<p>Prenatal genetic diagnostic and screening tests have been rapidly evolving over the past decade with the introduction and expansion of cell free DNA screening (cfDNA) and the use of chromosomal microarray (CMA) as a first-line test for evaluation of fetal anomalies. Understanding patient …
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Patient Perception of Negative Non-Invasive Prenatal Testing Results
<p>Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients may underestimate the limitations of …
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Anchoring and Uptake of Non-Invasive Prenatal Testing In The First and Second Trimester
<p>Non-invasive prenatal testing (NIPT) is a highly sensitive and specific screen for common aneuploidies that eliminates the risk of miscarriage that diagnostic tests carry. It is unclear how this new prenatal option will impact pregnant women’s decision making process. Women undergoing genetic …
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Genetic Testing Uptake and Yield in Patients with Male Breast Cancer
… established guidelines recommending germline testing for all patients with MBC, there is wide variability in the reported prevalence of germline pathogenic variants (gPV) in this population, and the risk for MBC in moderate-risk breast cancer genes remains unclear. Additionally, the variables …
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First Trimester Screening and Its Impact On Uptake of Diagnostic Testing
… it cannot replace the conclusive accuracy of prenatal diagnostic testing (PDT). Since FTS has been available, a decrease in the number of women who pursue PDT has been observed. This study sought to determine if there has been a significant change in the amount of PDT performed in our clinics, …
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Assessing Patient Attitudes to ward Genetic Testing For Hereditary Hematologic Malignancy
… hematologic malignancy (HHM). Although the diagnostic yield of germline analysis for leukemia is similar to solid tumors, referral for genetic evaluation in adults with leukemia is underperformed. Identifying HHM is important for prognostication, treatment, and donor selection for …
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the Order of Genetic Counseling and Ultrasound In the Second Trimester For Patients Screen Positive Down Syndrome: Effects On Patient Knowledge, Anxiety, Decision-Making, and Satisfaction
… and Gynecologists (ACOG) recommends women whose prenatal screening results indicate an increased risk for fetal aneuploidy be offered a detailed ultrasound exam, diagnostic testing, and genetic counseling as follow-up to their positive screening result (ACOG Committee on Practice Bulletins, …
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Effect of Anchoring On Perceived Amniocentesis Related Miscarriage Risk Within A Latina Population
… defect. Amniocentesis, the most common type of prenatal diagnostic test, is used to detect chromosomal abnormalities, such as Down syndrome. Amniocentesis is associated with a risk of complications that can lead to a miscarriage, which is typically quoted to be between 1 in 300 and 1 in 500. …
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Detektion von Sequenzvarianten mittels DHPLC : Etablierung als automatisiertes Verfahren zur direkten Mutationsanalyse bei autosomal-rezessiver polyzystischer Nierenerkrankung
… kidney disease (ARPKD) is one of the most common genetic disorders of the kidney in childhood. Beside cystic alterations of both kidneys, ARPKD is associated with cystic malformation of the bile ducts and congenital fibrosis of the liver. The clinical spectrum ranges from intrauterine …